日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Hematopoietic Stem-Cell Gene Therapy for Cystinosis

胱氨酸病的造血干细胞基因治疗

Barshop, Bruce A; Ball, Edward D; Benador, Nadine; Trauner, Doris; Phillips, Susan; Dohil, Ranjan; Afshari, Natalie A; Roy, Sohini; Campo Fernandes, Beatriz; Kohn, Donald; Shayan, Katayoon; Everett, John K; Bushman, Frederic D; Midgley, Julian; Liang, Hong; Sawyers, Anne; Gangoiti, Jon A; Panchal, Maulik; Ahmed, Imama; Cherqui, Stephanie

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, Judith S; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A; Becker, Lindsey; Bennett, Amanda E; Berry, Leandra N; Berry-Kravis, Elizabeth M; Bruchey, Aleksandra; Byars, Anna W; Cimms, Tricia; Cecil, Kim M; Covello, Maxine; Cubit, Laura S; Das, Tanvi; Davis, Robert J; Drye, Madison; Ficicioglu, Can; Fulton, John B; Goin-Kochel, Robin P; Guthrie, Whitney; Hallinan, Barbara E; Hannah-Shmouni, Fady; Gustafson, Kathryn E; Koeberl, Dwight D; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A; Stone, Caitlin; Sullivan, Nancy R; Sutton, V Reid; Thomas, Rebecca P; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.

使用超大的 AAV8 载体治疗 CPS1 缺陷可实现长期存活和氨控制

Diep Taryn, Zhou Wesley, Reyes Rachel E, Nitzahn Matthew, Day Isabel L, Makris Georgios, Lueptow Lindsay, Zhuravka Irina, Bakshi Stuti, Gangoiti Jon, Padaon Hyacinth, Li Yunfeng, Barshop Bruce A, Haberle Johannes, Lipshutz Gerald S

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

在患有法布里病且肾功能恶化的患者中,培尼加糖酶α与阿加糖酶β的头对头试验:来自为期2年的随机III期BALANCE研究的结果

Wallace, Eric L; Goker-Alpan, Ozlem; Wilcox, William R; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A; Hopkin, Robert J; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G

Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys

肾病性胱氨酸病伴原发性肾脏患者的妊娠和哺乳

Chan, Lillian; Wichart, Jenny; Kiang, Tony; Khurana, Rshmi; Gangoiti, Jon A; Barshop, Bruce A; Midgley, Julian

Tumor metabolism and neurocognition in CNS lymphoma

中枢神经系统淋巴瘤的肿瘤代谢和神经认知

Geng, Huimin; Tsang, Mazie; Subbaraj, Lakshmipriya; Cleveland, Joseph; Chen, Lingjing; Lu, Ming; Sharma, Jigyasa; Vigneron, Daniel B; Kurhanewicz, John; LaFontaine, Marisa; Luks, Tracy; Barshop, Bruce A; Gangoiti, Jon; Villanueva-Meyer, Javier E; Rubenstein, James L

Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes

通过对肥胖和2型糖尿病青少年进行代谢组学分析,鉴定具有病理特征的嘌呤合成生物标志物

Concepcion, Jennifer; Chen, Katherine; Saito, Rintaro; Gangoiti, Jon; Mendez, Eric; Nikita, Maria Eleni; Barshop, Bruce A; Natarajan, Loki; Sharma, Kumar; Kim, Jane J

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

在神经发育障碍研究中,以个人能力评分替代常模参照评分作为结果指标

Farmer, Cristan A; Kaat, Aaron J; Thurm, Audrey; Anselm, Irina; Akshoomoff, Natacha; Bennett, Amanda; Berry, Leandra; Bruchey, Aleksandra; Barshop, Bruce A; Berry-Kravis, Elizabeth; Bianconi, Simona; Cecil, Kim M; Davis, Robert J; Ficicioglu, Can; Porter, Forbes D; Wainer, Allison; Goin-Kochel, Robin P; Leonczyk, Caroline; Guthrie, Whitney; Koeberl, Dwight; Love-Nichols, Jamie; Mamak, Eva; Mercimek-Andrews, Saadet; Thomas, Rebecca P; Spiridigliozzi, Gail A; Sullivan, Nancy; Sutton, Vernon R; Udhnani, Manisha D; Waisbren, Susan E; Miller, Judith S

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

补充甜菜碱期间蛋氨酸过量引起的胱硫醚β-合成酶缺乏症和脑水肿:四例新病例及证据回顾

Schwahn, Bernd C; Scheffner, Thomas; Stepman, Hedwig; Verloo, Peter; Das, Anibh M; Fletcher, Janice; Blom, Henk J; Benoist, Jean-Francois; Barshop, Bruce A; Barea, Jaime J; Feigenbaum, Annette

Promises and pitfalls of untargeted metabolomics

非靶向代谢组学的优势与不足

Gertsman, Ilya; Barshop, Bruce A